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Biochem Exam 4
Cystic Fibrosis Mechanisms
CFTR chromosome 7
Cl- channel defect
Decreased chloride secretion
Increased Na and water reabsorption
Increased Na and Cl in sweat
Dehydration of mucous layers
Cystic Fibrosis Diagnosis and Treatment
Sweat Chloride Test > 60 mmol/L
Cystic Fibrosis Symptoms and Complications
Recurrent Pulmonary Infections
Malabsorption and Diarrhea
Chronic Hepatic Disease
Infertility in Males
Porphyria Cutanea Tarda (PCT)
Inhibited Uroporphyrinogen Decarboxylase (UROD)
Most Common Porphyria
20% Autosomal Dominant
80% Sporadic Type
Hepatitis C Association
Signs & Symptoms
Blistering of Skin
Tea Colored Urine
Increased Uroporphyrins (Urinary & Serum)
Hydroxychloroquine (Low Dose)
Von Willebrand Disease
Mixed platelet and coagulation disorder
Autosomal Dominant Condition Leading to Reduced vWF
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